Homo sapiens (human): 585
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Entry
585 CDS
T01001
Symbol
BBS4
Name
(RefSeq) Bardet-Biedl syndrome 4
KO
K16531
Bardet-Biedl syndrome 4 protein
Organism
hsa
Homo sapiens (human)
Disease
H00418
Bardet-Biedl syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
03036 Chromosome and associated proteins [BR:
hsa03036
]
585 (BBS4)
09183 Protein families: signaling and cellular processes
03037 Cilium and associated proteins [BR:
hsa03037
]
585 (BBS4)
Chromosome and associated proteins [BR:
hsa03036
]
Eukaryotic type
Centrosome formation proteins
Pericentriolar materials (PCM)
Centriolar satellite
585 (BBS4)
Cilium and associated proteins [BR:
hsa03037
]
Primary cilia and associated proteins
BBSome
585 (BBS4)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
TPR_2
TPR_1
TPR_8
TPR_19
TPR_11
TPR_17
TPR_14
TPR_16
TPR_12
ANAPC3
TPR_9
TPR_7
TPR_15
Wzy_C_2
PknG_TPR
NatA_aux_su
TPR_MalT
TPR-S
ChAPs
Mu-like_Pro
Motif
Other DBs
NCBI-GeneID:
585
NCBI-ProteinID:
NP_149017
OMIM:
600374
HGNC:
969
Ensembl:
ENSG00000140463
UniProt:
Q96RK4
A0A0S2Z3A9
Structure
PDB
LinkDB
All DBs
Position
15:72686207..72738473
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AA seq
519 aa
AA seq
DB search
MAEERVATRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQ
ETQGLCEYAIYVQALIFRLEGNIQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAA
IEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHNALNLNRHDLTYIMLGKIHLL
EGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAIL
AAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLA
PFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTNLEDIENAKRA
YAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEMVEM
AQKLGAALQVGEALVWTKPVKDPKSKHQTTSTSKPASFQQPLGSNQALGQAMSSAAAYRT
LPSGAGGTSQFTKPPSLPLEPEPAVESSPTETSEQIREK
NT seq
1560 nt
NT seq
+upstream
nt +downstream
nt
atggctgaggagagagtcgcgacgagaactcaatttcctgtatctactgagtctcaaaaa
ccccggcagaaaaaagctccagagtttcctattttggagaagcagaactggttgattcat
cttcattatatccggaaagattatgaagcctgcaaggctgttatcaaagaacagcttcaa
gagactcagggattgtgtgaatatgctatctatgtccaagcattgatatttcgcctagaa
ggaaatatccaagaatccctagaactcttccagacatgtgcagttcttagtcctcagagt
gctgataacctcaagcaggtggccagatctttatttcttttgggaaaacataaagctgcc
attgaagtatataatgaagcagctaaactcaaccagaaagattgggagatcagccataac
ctaggagtttgctacatatacctgaagcagttcaacaaggcacaagaccagttgcacaat
gccctgaatcttaataggcacgatctgacttatataatgctggggaagatccacttgctg
gagggagacttggacaaggccattgaagtctacaagaaagcagtggagttctcaccagaa
aatacagagcttcttacaactttaggattactctacttacagctcggcatttaccagaag
gcatttgaacatcttggcaatgcactgacttatgaccctaccaactacaaggccatcttg
gcagcaggcagcatgatgcagacccacggggactttgatgttgccctcaccaaatacaga
gttgtggcttgtgctgttccagaaagtcctccactctggaataacattggaatgtgtttc
tttggcaagaagaaatatgtggcggccatcagctgcctgaaacgagccaactacttggca
ccctttgattggaagattctgtataatttgggccttgtccatttgaccatgcagcagtat
gcatcagcttttcattttctcagtgcggccatcaacttccagccaaagatgggggagctc
tacatgctcttggcagtggctctgaccaatctggaagatatagaaaatgccaagagagcc
tacgcagaagcagtccacctggataagtgtaaccctttagtaaacctgaactatgctgtg
ctgctgtacaaccagggcgagaagaagaacgccctggcccaatatcaggagatggagaag
aaagtcagcctactcaaggacaatagctctctggaatttgactctgagatggtggagatg
gctcagaagttgggagctgctctccaggttggggaggcactggtctggaccaaaccagtt
aaagatcccaaatcaaagcaccagaccacttcaaccagcaaacctgccagtttccagcag
cctctgggctctaatcaagctctaggacaggcaatgtcttcagcagctgcatacaggacg
ctcccctcaggtgctggaggaacatcccagttcacaaagcccccatctcttcctctggag
ccagagcctgcggtggaatcaagtccaactgaaacatcagaacaaataagagagaaataa
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